TY - JOUR T1 - Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. JF - Nat Genet Y1 - 2013 A1 - Morrison, Alanna C A1 - Voorman, Arend A1 - Johnson, Andrew D A1 - Liu, Xiaoming A1 - Yu, Jin A1 - Li, Alexander A1 - Muzny, Donna A1 - Yu, Fuli A1 - Rice, Kenneth A1 - Zhu, Chengsong A1 - Bis, Joshua A1 - Heiss, Gerardo A1 - O'Donnell, Christopher J A1 - Psaty, Bruce M A1 - Cupples, L Adrienne A1 - Gibbs, Richard A1 - Boerwinkle, Eric KW - Cholesterol, HDL KW - Computational Biology KW - Databases, Genetic KW - Genetic Variation KW - Genome, Human KW - Genome-Wide Association Study KW - Genomics KW - Heterozygote KW - Humans KW - Open Reading Frames AB -

We describe initial steps for interrogating whole-genome sequence data to characterize the genetic architecture of a complex trait, levels of high-density lipoprotein cholesterol (HDL-C). We report whole-genome sequencing and analysis of 962 individuals from the Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) studies. From this analysis, we estimate that common variation contributes more to heritability of HDL-C levels than rare variation, and screening for mendelian variants for dyslipidemia identified individuals with extreme HDL-C levels. Whole-genome sequencing analyses highlight the value of regulatory and non-protein-coding regions of the genome in addition to protein-coding regions.

VL - 45 IS - 8 U1 - http://www.ncbi.nlm.nih.gov/pubmed/23770607?dopt=Abstract ER -